Sepiapterin Reductase Deficiency

National Organization for Rare Disorders, Inc.

ImportantIt is possible that the main title of the report Sepiapterin Reductase Deficiency is not the name you expected.

Disorder Subdivisions

None

General Discussion

SummarySepiapterin reductase deficiency (SRD) is a rare genetic disorder that is characterized by abnormally low levels of certain neurotransmitters. Neurotransmitters are chemicals that modify, amplify or transmit nerve impulses from one nerve cell to another, enabling nerve cells to communicate. The severity of sepiapterin reductase deficiency can range from a mild movement disorder at one end to severe, progressive neurological disease at the other. Common symptoms include lack of muscle tone (hypotonia), drooling, loss of coordination, abnormal movements, delayed motor and language development (i.e. delays in reaching developmental milestones), and/or dystonia. Dystonia is a general term for a group of muscle disorders, generally characterized by involuntary muscle contractions that force the body into abnormal, sometimes painful, movements and positions (postures). The specific symptoms can vary dramatically from one person to another. Prompt diagnosis and treatment can reduce or potentially prevent severe, irreversible neurological damage. Children with sepiapterin reductase deficiency may show a dramatic response and sustained improvement when treated with levodopa. Levodopa is a chemical that is converted to dopamine, a brain chemical that serves as a neurotransmitter. Some individuals show benefit with treatment with addition of 5-HTP, a neurotransmitter precursor that is converted to serotonin. Sepiapterin reductase deficiency is caused by mutations in the SPR gene and is inherited as an autosomal recessive disorder.

IntroductionSepiapterin reductase deficiency can be classified as a form of dystonia, a pediatric neurotransmitter disorder or a disorder of tetrahydrobiopterin deficiency. The disorder is sometimes referred to as a form of dopa-responsive dystonia. However, dystonia is not always present in infancy and may not be a universal symptom so that term may not apply to all cases. The non-specific symptoms of this condition may be misdiagnosed as cerebral palsy.

Supporting Organizations

American Dystonia Society

17 Suffolk Lane

Suite 1

Princeton Junction, NJ 08550

Tel: 310-237-5478

Fax: 609-275-5663

Email: info@dystonia.us

Website: http://www.dystonia.us

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building

176 Nantwich Road

Crewe, CW2 6BG

United Kingdom

Tel: 4408452412173

Fax: 4408452412174

Email: enquiries@climb.org.uk

Website: http://www.CLIMB.org.uk

Dystonia Medical Research Foundation

1 East Wacker Drive, Suite 2810 East Wacker Drive

Suite 2810

Chicago, IL 60601-1905

United States

Tel: (312)755-0198

Fax: (312)803-0138

Tel: (800)377-3978

Email: dystonia@dystonia-foundation.org

Website: http://www.dystonia-foundation.org

Dystonia Society

89 Albert Embankment, 2nd Floor

Vauxhall

London, SE1 7TP

United Kingdom

Tel: 8454586211

Fax: 8454586311

Tel: 8454586322

Email: angie@dystonia.org.uk

Website: http://www.dystonia.org.uk

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

Website: http://rarediseases.info.nih.gov/GARD/

Pediatric Neurotransmitter Disease Association

28 Prescott Place

Old Bethpage, NY 11804

Tel: (603)733-8409

Email: pndassociation@aol.com

Website: http://www.pndassoc.org

The Arc

1825 K Street NW, Suite 1200

Washington, DC 20006

Tel: (202)534-3700

Fax: (202)534-3731

Tel: (800)433-5255

Email: info@thearc.org

Website: http://www.thearc.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated: 8/25/2015Copyright 2015 National Organization for Rare Disorders, Inc.

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